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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort.Methods: Cumulative percentiles of amino acids andExpand
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“Classical organic acidurias”: diagnosis and pathogenesis
AbstractOrganic acidurias are inherited metabolic diseases due to the deficiency of an enzyme or a transport protein involved in one of the several cellular metabolic pathways devoted to theExpand
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Proteomics Identification of Acyl-acceptor and Acyl-donor Substrates for Transglutaminase in a Human Intestinal Epithelial Cell Line
Transglutaminase (TG)-catalyzed cross-linking of both intracellular and extracellular proteins is an important biochemical event. However, increased concentrations of cross-linked proteins have beenExpand
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Maternal vitamin B12 deficiency detected in expanded newborn screening.
OBJECTIVES Besides the inherited form, vitamin B(12) deficiency may be due to diet restrictions or abnormal absorption. The spread of newborn screening programs worldwide has pointed out thatExpand
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Analysis of the Ribosomal Protein S19 Interactome*S
Ribosomal protein S19 (RPS19) is a 16-kDa protein found mainly as a component of the ribosomal 40 S subunit. Its mutations are responsible for Diamond Blackfan anemia, a congenital diseaseExpand
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Comparison of the kinetics of S‐S bond, secondary structure, and active site formation during refolding of reduced denatured hen egg white lysozyme
To investigate the role of some tertiary interactions, the disulfide bonds, in the early stages of refolding of hen lysozyme, we report the kinetics of reoxidation of denatured and reduced lysozymeExpand
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Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in accumulation of abnormal metabolites proximal to the metabolic block,Expand
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SHP-1 expression accounts for resistance to imatinib treatment in Philadelphia chromosome-positive cells derived from patients with chronic myeloid leukemia.
We prove that the SH2-containing tyrosine phosphatase 1 (SHP-1) plays a prominent role as resistance determinant of imatinib (IMA) treatment response in chronic myelogenous leukemia cell linesExpand
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Analysis of transglutaminase protein substrates by functional proteomics
Transglutaminases are calcium‐dependent enzymes that catalyze a post‐translational modification of proteins through the formation of ε‐(γ‐glutamyl)lysine bonds. Although specific roles forExpand
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Serum metabolomic profiles suggest influence of sex and oral contraceptive use.
AIM Considering that the effects of sex and oral contraceptives (OCs) on blood metabolites have been scarcely studied and the fact that protocol designs for clinical trials emphasise the use ofExpand
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